RGD:14737944 Rat Genome Database

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Variant: RGD:14737944 -  Homo sapiens

RGD ID: 14737944
RS ID: rs777263711
ClinVar ID: CV644055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTHL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 2,096,133
GRCh38 16 2,046,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1366t1:c.350C>T
NM_001318194.2:c.24+148C>T
NM_001318193.2:c.350C>T
NM_002528.7:c.350C>T
More... 		03/14/2022 intron variant uncertain significance AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; NTHL1-Related Adenomatous Polyposis and Colorectal Cancer; NTHL1-related attenuated familial adenomatous polyposis; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NTHL1
Accession:NM_002528
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPLKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTD
DATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANR
LRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_001318193
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPLKSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLA
MAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQAL
CPAAQGL*

Gene Symbol:NTHL1
Accession:XM_047434171
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNKKDAPVDHLGTEHCYDSSAPLKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGF
WRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEE
TRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_001318194
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532   PMID:34871433  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000820715 CLINVAR
  RCV001021037 CLINVAR
  RCV003321751 CLINVAR
  RCV003467499 CLINVAR
dbSNP (RS) rs777263711 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  C4225157 CLINVAR
  CN169374 CLINVAR
NCBI Gene NTHL1 CLINVAR
OMIM 602656 CLINVAR
  616415 CLINVAR
SNOMED CT 699346009 CLINVAR